A family affected by branchio-oto syndrome with EYA1 mutations
โ Scribed by Satoshi Fukuda; Tsutomu Kuroda; Eiji Chida; Rie Shimizu; Shin-ichi Usami; Eiko Koda; Satoko Abe; Atsushi Namba; Ken Kitamura; Yukio Inuyama
- Book ID
- 117544722
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 323 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0385-8146
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## Communicated by Mark H. Paalman EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1.
In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the di